Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sabine Tippmann"'
Autor:
Daphne Gamer, Samuel G. Jacobson, Martina Broghammer, Roberto Giorda, Roberto Salati, Ulrich Kellner, Carel B. Hoyng, Sinan Tatlipinar, Susanne Kohl, Thomas Rosenberg, Pierre Bitoun, Gerhard Wolff, Herbert Jägle, Bernd Wissinger, E. Cumhur Sener, Eberhart Zrenner, Günter Rudolph, Sabine Tippmann, Frans P.M. Cremers, Marianne Schwartz, Tim Marx, Bernhard Jurklies, Eckart Apfelstedt-Sylla, Claudio Castellan, Christine Verellen-Dumoulin, Simone Mayer, Birgit Lorenz, Sten Andréasson, Lindsay T. Sharpe
Publikováno v:
American Journal of Human Genetics, 69, 4, pp. 722-737
American Journal of Human Genetics, 69, 722-737
American Journal of Human Genetics, 69, 722-737
We recently showed that mutations in the CNGA3 gene encoding the alpha -subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0acfee60e05a5e4c554d369542ad42be
Autor:
Pasquale Montagna, Britta Baumann, Rosanna Carroccia, Nico Fuhrmann, Michela Rugolo, Giovanna Cenacchi, Simone Schaich, Anna Ghelli, Monika Papke, Raffaele Lodi, Rocco Liguori, Bernd Wissinger, Valerio Carelli, Marcel V. Alavi, Piero Barboni, Richard J. Youle, Maria Pia Giannoccaro, Laura Bucchi, Simone Schimpf, Lora Longanesi, Claudia Zanna, Caterina Tonon, Maria Lucia Valentino, Sabine Tippmann, Luisa Iommarini
Publikováno v:
Human molecular genetics. 20(10)
Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identified in the OPA1 and OPA3 genes, both encoding for mitochondrial proteins. We characterized clinical and laboratory features in a large OPA1-negative f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baad54df8c7a108eba2f8b2ffc96b926
https://pubmed.ncbi.nlm.nih.gov/21349918
https://pubmed.ncbi.nlm.nih.gov/21349918
Autor:
Bernd Wissinger, Michael H. Foerster, Susanne Kohl, Hannelore Kraus, Sabine Tippmann, Ulrich Kellner
Publikováno v:
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 242(9)
X-linked blue cone monochromatism (BCM) has to be differentiated from x-linked cone dystrophy and autosomal recessive rod monochromatism.In nine male patients with congenital cone dysfunction (one family, six single cases; age range: 9-55 years), mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e81ff02600c28d536491e4046ce0103
https://pubmed.ncbi.nlm.nih.gov/15069569
https://pubmed.ncbi.nlm.nih.gov/15069569
Autor:
Ulrich Kellner, Bernd Wissinger, Sabine Tippmann, Susanne Kohl, Hannelore Kraus, Michael H Foerster
Publikováno v:
Graefe's Archive of Clinical & Experimental Ophthalmology; Sep2004, Vol. 242 Issue 9, p729-735, 10p